Canonical Allele Identifier: CA341283762
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 444169
ClinVar RCV Id: RCV000512709
dbSNP Id: rs1472640519
gnomAD v4: 1-94021847-C-T
MyVariant Identifiers: chr1:g.94487403C>T (hg19) chr1:g.94021847C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021847C>T , CM000663.2:g.94021847C>T GRCh38
NC_000001.10:g.94487403C>T , CM000663.1:g.94487403C>T GRCh37
NC_000001.9:g.94259991C>T NCBI36
NG_009073.1:g.104303G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4772G>A MANE Select ENSP00000359245.3:p.Gly1591Glu
ENST00000370225.3:c.4772G>A ENSP00000359245.3:p.Gly1591Glu
ENST00000460514.1:n.266G>A
ENST00000536513.5:c.1148G>A ENSP00000439707.2:p.Gly383Glu
NM_000350.2:c.4772G>A NP_000341.2:p.Gly1591Glu
NM_000350.3:c.4772G>A MANE Select NP_000341.2:p.Gly1591Glu
Search 100 bp 5'
Search 100 bp 3'